DISEASES

Disease-gene associations mined from literature

Literature associating RIMS1 and cone-rod dystrophy 7

RIMS1 [ENSP00000428417]

Regulating synaptic membrane exocytosis protein 1; Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short- term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes; PDZ domain containing

Synonyms:  RIMS1,  RIMS1p,  hRIMS1,  B7Z7W2,  E5RGM0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM